363070008: Developmental hereditary disorder (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Developmental hereditary disorder

\trouble du développement\Developmental hereditary disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental hereditary disorder	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Developmental hereditary disorder	est un(e) (attribut)	maladie héréditaire	true	Inferred relationship	Some
Developmental hereditary disorder	est un(e) (attribut)	trouble du développement	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sanjad Sakati syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive dysgenesis of anterior segment of eye	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial cavitary optic disc anomaly (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Combined immunodeficiency, enteropathy spectrum	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
myopathie congénitale à "central cores" (trouble)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital fiber-type disproportion myopathy due to ZAK mutation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lymphedema, posterior choanal atresia syndrome (disorder)	est un(e) (attribut)	False	Developmental hereditary disorder	Inferred relationship	Some
Severe oculo-renal-cerebellar syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism type II	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital fibre-type disproportion myopathy due to ACTA1 mutation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital fiber-type disproportion myopathy due to TPM3 mutation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Progressive cerebello-cerebral atrophy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
4H leukodystrophy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Polymicrogyria due to TUBB2B mutation	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebral ventriculomegaly, cystic kidney disease	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
lymphœdème héréditaire	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Severe myopia, generalized joint laxity, short stature syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Ocular motor apraxia Cogan type (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
QRICH1-related intellectual disability, chondrodysplasia syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Fetal encasement syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Nephronophthisis hepatic fibrosis syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Keppen Lubinsky syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pierpont syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
RARS-related autosomal recessive hypomyelinating leucodystrophy	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
3-methylglutaconic aciduria type 9	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Complex lethal osteochondrodysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
PCNA-related progressive neurodegenerative photosensitivity syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Glucagon receptor-related hyperglucagonemia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Xq25 microduplication syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Lethal brain and heart developmental defects syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
8q24.3 microdeletion syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Duane retraction syndrome with congenital deafness	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Familial congenital nasolacrimal duct obstruction (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Frontorhiny (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
CNTNAP2-related developmental and epileptic encephalopathy	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Primary failure of tooth eruption (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Isolated osteopoikilosis (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Osteofibrous dysplasia (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some
Sonoda syndrome	est un(e) (attribut)	True	Developmental hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
482205012	Developmental hereditary disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
707591000077118	trouble héréditaire du développement (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
754853019	Developmental hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
84831000077112	trouble héréditaire du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)